Hartnup disease
A 10 year old girl presented with clinical signs and symptoms of the triad of niacin deficiency namely skin eruptions, ataxia, mental changes and diarrhea. Although this deficiency could be nutritional where maize is a staple diet, this patient had neutral aminoaciduria which indicated a defective t...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2008-01-01
|
| Series: | Indian Journal of Dermatology |
| Subjects: | |
| Online Access: | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2008;volume=53;issue=1;spage=31;epage=32;aulast=Patel |
| _version_ | 1819097298675695616 |
|---|---|
| author | Patel A Prabhu A |
| author_facet | Patel A Prabhu A |
| author_sort | Patel A |
| collection | DOAJ |
| description | A 10 year old girl presented with clinical signs and symptoms of the triad of niacin deficiency namely skin eruptions, ataxia, mental changes and diarrhea. Although this deficiency could be nutritional where maize is a staple diet, this patient had neutral aminoaciduria which indicated a defective transport of neutral amino acid transporter in the kidneys and intestine resulting in failure of transport of tryptophan and other neutral (ie, monoaminomonocarboxylic) alpha-amino acids in the small intestine and the renal tubules. |
| first_indexed | 2024-12-22T00:12:52Z |
| format | Article |
| id | doaj.art-0763555ae5ea47d9803141dc7e70a996 |
| institution | Directory Open Access Journal |
| issn | 0019-5154 1998-3611 |
| language | English |
| last_indexed | 2024-12-22T00:12:52Z |
| publishDate | 2008-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Dermatology |
| spelling | doaj.art-0763555ae5ea47d9803141dc7e70a9962022-12-21T18:45:23ZengWolters Kluwer Medknow PublicationsIndian Journal of Dermatology0019-51541998-36112008-01-015313132Hartnup diseasePatel APrabhu AA 10 year old girl presented with clinical signs and symptoms of the triad of niacin deficiency namely skin eruptions, ataxia, mental changes and diarrhea. Although this deficiency could be nutritional where maize is a staple diet, this patient had neutral aminoaciduria which indicated a defective transport of neutral amino acid transporter in the kidneys and intestine resulting in failure of transport of tryptophan and other neutral (ie, monoaminomonocarboxylic) alpha-amino acids in the small intestine and the renal tubules.http://www.e-ijd.org/article.asp?issn=0019-5154;year=2008;volume=53;issue=1;spage=31;epage=32;aulast=Patel<i>Hartnup diseasepellagratryptophan </i> |
| spellingShingle | Patel A Prabhu A Hartnup disease Indian Journal of Dermatology <i>Hartnup disease pellagra tryptophan </i> |
| title | Hartnup disease |
| title_full | Hartnup disease |
| title_fullStr | Hartnup disease |
| title_full_unstemmed | Hartnup disease |
| title_short | Hartnup disease |
| title_sort | hartnup disease |
| topic | <i>Hartnup disease pellagra tryptophan </i> |
| url | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2008;volume=53;issue=1;spage=31;epage=32;aulast=Patel |
| work_keys_str_mv | AT patela hartnupdisease AT prabhua hartnupdisease |